deletion/duplication analysis

Synonym: copy number analysis

Testing that identifies deletions/duplications not routinely detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes the gene/chromosome segment of interest.

Related terms: chromosomal microarray; deletion; duplication; FISH; next-generation sequencing; PCR; Sanger sequencing; targeted analysis for pathogenic variants

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